Mwana wenyu mudiki ane zviratidzo izvi here? Ngatikurukurei nezveAlagille Syndrome!

Wakambofunga here kuti dzimwe nguva zvimwe zvezvirwere zvinosangana nevana vedu zvinogona kuoma zvishoma? Chimwe chezvirwere zvakadaro chinoda kutarisirwa zvishoma, asi chinogona kugadziriswa kana uine kunzwisisa kwakakodzera , chinonzi Alagille Syndrome. Izvi zvinozivikanwawo seAlagille-Watson syndrome. Ichi chirwere chemajini, zvichireva kuti chinhu chatinogara nhaka kubva kuvabereki vedu. Chinonyanya kukanganisa chiropa chedu nemoyo. Zvisinei, dzimwe nhengo dzemuviri dzinogonawo kukanganiswa. Ngatitaurei nezveizvi zvakadzama, handiti?

Chii chaizvo chinonzi Alagille Syndrome?

Zvichitaurwa zviri nyore, Alagille Syndrome chirwere chinokonzerwa nemajini . Izvi zvinogona kukanganisa mashandiro echiropa chedu, pamwe nekonzera shanduko dzakati wandei uye kusasimba mumaumbirwo emwoyo, ndiko kuti, maitiro emwoyo. Vamwe vana vanoberekwa vane chirwere ichi vane zvimwe zvinhu zvakasiyana-siyana muchitarisiko chavo. Mamwe ematambudziko anogona kumuka nekuda kweizvi anogona kuva nengozi uye kutouraya. Ndosaka zvichikosha kuziva izvi.

Ndedzipi nhengo dzemuviri dzinokanganiswa neAlagille Syndrome?

Tatotaura kuti izvi zvinonyanya kukanganisa chiropa nemoyo. Asi, handizvo chete. Zvinogonawo kukanganisa kukura kwedzimwe nhengo dzinokosha mumuviri wako. Idzi ndedzi:

• Mwoyo: Matambudziko nemavharuvhu emwoyo netsinga dzeropa anogona kuitika.
• Itsvo: Zvinhu zvakaita sekuoma kweitsvo uye kuumbwa kwecyst.
• Pancreas: Basa repancreas, iro rinobatsira mukugaya chikafu, rinogonawo kukanganiswa.
• Maziso: Kutadza kuona zvakanaka.
• Mapfupa: Kumwe kuchinja mumapfupa, senge musana.
• Mitsipa yeropa: Matambudziko anogonawo kuitika mutsinga dzeropa dzeuropi.

Ndiani anogona kuva nechirwere ichi? Chinowanzoitika sei?

Alagille Syndrome chirwere chemajini . Izvi zvinoreva kuti kana mwana akagara nhaka jini kubva kuna amai kana baba, mwana anogona kuva nezviratidzo izvi. Vanachiremba vanoti iyi i "autosomal dominant pattern" yenhaka. Izvi zvinoreva kuti kunyangwe mumwe wevabereki aine jini, mwana anogona kuramba achikura. Kazhinji, pakati pe30% ne50% yezvirwere zvinopfuudzwa kubva kumhuri kuenda kumhuri nenzira iyi.

Zvisinei, dzimwe nguva zvinogona kuitika kune mumwe munhu mutsva, kunyangwe pasina munhu mumhuri akambova nechirwere ichi. Izvi zvinoreva kuti chinogona kuitika pasina nhoroondo yemhuri.

Panyaya yekuti izvi zvakajairika sei, zvinofungidzirwa kuti chirwere ichi chinokanganisa munhu mumwe chete pavanhu 30,000 kusvika 45,000.Asi huwandu uhu hausi hwakakodzera, nekuti dzimwe nguva hunogona kusaonekwa, kana kuti hunogona kufungidzirwa kuti ndehumwe chirwere nekuti zviratidzo zvakanyanya kuoma ndizvo zvinorapwa.

Alagille Syndrome inokanganisa sei muviri wangu?

Zviratidzo zveAlagille Syndrome zvinosiyana kubva pamunhu kusvika pamunhu. Izvi zvinoreva kuti havasi vese vane chirwere ichi vane zviratidzo zvakafanana. Chinoitika ndechekuti ducts dze bile muchiropa chedu hadzikure zvakanaka. Dzingave pfupi, dzakatetepa, kana kuti dzine ducts shoma dze bile. Idzi ducts dze bile ndidzo dzinotakura ducts dzinogadzirwa muchiropa - mvura inobatsira kugaya mafuta ari muchikafu chatinodya - kuenda kugayiwa nedumbu nedumbu diki. Saka, kana ducts dze bile idzi dzikarega kushanda zvakanaka, ducts dze bile dzinobatwa muchiropa. Ipapo chiropa chinotanga kukuvara .

Saizvozvowo, izvi zvinokanganisawo mwoyo. Sezvo nzira dzemudumbu dzichiita shoma, mavharuvhu emwoyo netsinga dzeropa zvinogona kuita shoma uye kuchinja kunogona kuitika. Izvi zvinogona kukanganisa kufamba kweropa kubva pamwoyo kuenda kumuviri wese, uye okisijeni inogona kusaendeswa zvakanaka.

Ndezvipi zviratidzo zveAlagille Syndrome?

Zviratidzo izvi zvinowanzoonekwa muhucheche kana muhudiki . Zvisinei, zvinogona kusaonekwa kusvika munhu akura. Kuoma kwezviratidzo kunogona kusiyana kunyangwe mumhuri imwe chete.

Zviratidzo zvine chekuita nechiropa

Takaudzwa kuti Alagille Syndrome inogona kukonzera kukuvara kwechiropa. Kana chiropa chakuvara, unogona kuona zviratidzo zvakaita seizvi:

• Kutsvuka kweganda nemaziso - tinozvidaidza kuti jaundice (kana kuti icterus).
• Ganda rinokwenya zvakanyanya.
• Mafuta emhando yero (senge mapundu) pamusoro peganda (xanthomas).
• Weti yakasviba.

Kukuvara kwechiropa uku kunoitika nekuti maburi enyongo haapo, akatetepa, kana kuti haana kuumbwa zvakanaka. Maburi aya anotakura nyongo, mvura inobatsira kugaya mafuta, kubva pachiropa kuenda kunyongo nedumbu diki. Kana maburi aya asingashande zvakanaka, nyongo inoungana muchiropa. Chiropa hachigoni kuita basa racho nemazvo, iro riri rekubvisa tsvina muropa.

Nekuti muviri haugone kupinza mafuta nemavhitamini zvakanaka (kunyanya A, D, E, uye K), zvimwe zviratidzo zvinogona kuitika:

• Kushaya simba kwemapfupa.
• Kukura kwakaderera, hapana kuwedzera kwehurefu.
• Matambudziko ekuona (kunyanya anokanganisa cornea ne retina).
• Matambudziko ekuenzanisa muviri nekufamba.
• Kuda kugayiwa kweropa.
• Kunonoka kukura kwemwana.
• Mavanga echiropa (cirrhosis).

Vanhu vanosvika 15% vane Alagille Syndrome vari panjodzi yekurwara nezvirwere zvinogona kutyisidzira hupenyu hwavo zvakaita sechirwere chechiropa chakakomba uye kutadza kushanda kwechiropa.

Zviratidzo zvine chekuita nemoyo

Chirwere cheAlagille chinogonawo kukanganisa moyo nekushanda kwawo. Izvi zvinoreva:

• Kuvharwa kwetsinga dzeropa dzemumapapu (pulmonary artery stenosis) kupfupika kwetsinga yeropa inotakura ropa kubva pamoyo kuenda kumapapu.
• Kuchinja kwemaumbirwo emwoyo. Semuenzaniso, buri riri pakati pemakamuri maviri epasi emwoyo (ventricular septal defect), kana kuti kutetepa kwechubhu inotakura ropa kuenda kumapapu, buri riri pakati pemakamuri emwoyo, kuchinja kwenzvimbo yetsinga huru yeropa (aorta), uye ventricle yekurudyi yakakura (tetralogy of Fallot).
• Manzwiro asina kujairika emwoyo (kugunun'una kwemoyo).
• Kushanduka kweruvara rwebhuruu paganda (cyanosis) nekuda kwekushomeka kweokisijeni muropa.

Zvinhu zvinoonekwa pachiso nemuviri

Vana vanoberekwa neAlagille Syndrome vane zvimwe zvinhu zvakasiyana-siyana pachiso:

• Daro riri pakati pemaziso rakafara, maziso akadzika.
• Chirebvu chakanongedza, chakajeka.
• Huma hombe.

Zvimwe zviratidzo zvinogona kuonekwa mumuviri ndeizvi:

• Kusarongeka kwemafupa. Semuenzaniso, mapfupa emusana.
• Njodzi yekubuda ropa uye sitiroko muuropi nekuda kwekusashanda zvakanaka kwetsinga dzeropa muuropi.
• Kudzikira zvishoma nezvishoma kwetsinga huru yeropa muuropi (Moyamoya syndrome).
• Matambudziko eitsvo (kuoma, ma cysts, kusashanda zvakanaka kwemuviri).
• Rwatata harikwanise kupwanya zvakanaka uye kupinza zvinovaka muviri kubva muchikafu.

Ko Alagille Syndrome inokanganisa kugona kwepfungwa here?

Vana vanosvika 2% vane Alagille Syndrome vane matambudziko epfungwa . Zvisinei, vamwe vana (vanenge 16%) vanogona kunonoka zvishoma pakukura kwematanho ekufamba, akadai sekufamba. Zvisinei, uku hakusi kuremara kwepfungwa.

Chii chinokonzera Alagille Syndrome?

Kazhinji, vanhu vanopfuura 90% vane Alagille Syndrome vanokonzerwa nedambudziko rejini reJAG1. Izvi zvinogona kunge kuri kuchinja kwejini kana kubviswa kwejini. Vamwe 2% kusvika ku3% vane kuchinja kwejini reNOTCH2. Zvisinei, kune vanenge 3% vevanhu, chikonzero chaicho chejini hachisati chazivikanwa.

Majini aya, anonzi `JAG1` uye `NOTCH2`, anorayira masero edu kugadzira mapuroteni anodiwa kuti agadzire zvikamu zvakasiyana-siyana zvemuviri panguva yekukura kwemwana. Kana paine shanduko mumajini maviri aya, kana kana paine kurasikirwa kwezvinhu zvemajini muchikamu chechromosome 20 uko kune jini re`JAG1`, masero haagamuchire mirairo iyoyo nemazvo. Apa ndipo panotanga zviratidzo zvakaita sekukanganisa kwechimiro chemoyo, kutetepa kwenzira dze bile, uye kusarongeka kwemapfupa.

Chirwere cheAlagille chinoonekwa sei?

Chirwere cheAlagille chinogona kuoma kuona nekuti zviratidzo zvinosiyana kubva pamunhu kusvika pamunhu. Kuongororwa kunotanga nenhoroondo yakazara yezvekurapa uye kuongororwa kwakakwana kwezviratidzo zvako. Chiremba anogona kufungidzira kuti une Alagille Syndrome kana uine zviratidzo zvitatu zvinotevera:

• Maumbirwo asina kujairika emaburi enyongo.
• Chirwere chechiropa kana kuvharika kwekufamba kwenyongo (cholestasis).
• Chirwere chemwoyo.
• Kusagadzikana kwemafupa.
• Matambudziko ekuona.
• Zvimiro zvechiso zvakasiyana.

Kuongororwa kwakawanda kunoitwa kuti kusimbiswe chirwere ichi:

• Kutora chidimbu chidiki chechiropa kuti chiongororwe (biopsy yechiropa).
• Kuongororwa kweropa.
• Kuongororwa kwemaziso.
• X-ray yemusana.
• Ultrasound yemudumbu uye/kana yemoyo.
• Kuongororwa kwemajini.
• Kuongororwa kwebasa reitsvo.
• Kuongororwa kwebasa repancreas.

Ndingaziva sei kana mwana wangu aine Alagille Syndrome kana Biliary Atresia?

Alagille Syndrome neBiliary Atresia zvine zviratidzo zvakafanana. MuAlagille Syndrome, kuyerera kwenyongo kuburikidza neducts dzenyongo kuenda muura hudiki kunodzikira, uye bile rinoungana muchiropa. Biliary Atresia inokonzerwawo nekukuvara kana mavanga educts dzenyongo, izvo zvinogona kukonzera zviratidzo zvakafanana. Vana vacheche vanogona kusangana nezviratidzo zvakafanana mumamiriro ese ari maviri:

• Weti ine ruvara rwakasviba.
• Zvigaro zvine ruvara rwakajeka.
• Kuzvimba kwedumbu.
• Jaundice inoramba iripo kwemavhiki akati wandei mushure mekuzvarwa.

Vacheche vane biliary atresia vanogonawo kuva nezvimwe zvirema zvekuzvarwa nazvo, zvakaita seAlagille Syndrome, pamwe nekutadza kushanda zvakanaka kwemoyo, itsvo, uye spleen. Dzimwe ongororo dzakaratidza kuti jini rimwe chete rinonzi JAG1 rinokonzera Alagille Syndrome rinogona kunge riri mubiliary atresia.

Nekuti biliary atresia yakajairika kupfuura Alagille syndrome, uye nekuti haisi mibairo yese yeAlagille syndrome inoonekwa muhucheche, vanachiremba vanogona kutanga vafungidzira kuti biliary atresia. Zvisinei, kurapwa kwezvirwere zvese izvi kwakafanana . Kana mwana wako akazova nezvimwe zviratidzo zveAlagille syndrome, inogona kuonekwa panguva iyoyo.

Chirwere cheAlagille chinorapwa sei?

Hapana mushonga chaiwo wechirwere ichi parizvino.Saka, kurapwa kwakanangana nekudzora zviratidzo zvinomuka. Kureva kuti, kurapwa kunotsanangurwa nezviratidzo. Zvinotevera zvinogona kuitwa sekurapa:

• Kupa mavhitamini A, D, E naK.
• Kupa vacheche mukaka wemukaka une "triglycerides yepakati" inogona kunwisa zvinovaka muviri zvakanaka.
• Kudya nechubhu yemudumbu kana chubhu yemudumbu kuti chikafu chipinde zvakananga mudumbu.
• Kupa mishonga (ursodeoxycholic acid) inorapa zvirwere zvechiropa.
• Kushandisa mishonga yekurapa kuvaviwa (semuenzaniso mishonga inorwisa mabhakitiriya, cholestyramine, naltrexone, rifampin) uye moisturizers kana lotions kuti ganda rinyorove.
• Kubviswa kwenyongori zvishoma inzira yekuvhiya yekushandura nzira yenyongori pakati pechiropa nedumbu.
• Kuvhiyiwa kwezvirwere zvinokanganisa mwoyo, mitsipa yeropa, neitsvo.

Kana Alagille Syndrome ichikonzera kukuvara kwakanyanya kwechiropa uye kutadza kushanda kwechiropa, kuisirwa chiropa kunogona kudiwa.

Ndingararama sei nezviratidzo zvangu uye ndinozvibata sei?

Nekuti zviratidzo zvakasiyana kune munhu wese ane chirwere ichi, chiremba wako ndiye achasarudza kuti ndeipi kurapwa kwakakunakira. Zvakakosha kuongororwa nguva nenguva kuti utarise hutano hwemwoyo wako nechiropa. Kana chiremba wako akatanga kurapwa kutsva, uchafanirwa kuona chiremba wako zvakare mumavhiki mashoma kuti uone kuti zviri kushanda zvakanaka sei uye kuti zvine mhedzisiro ipi. Kurapa kwakawanda kunoshanda nekuderedza zviratidzo, kukubatsira kuti unzwe zviri nani, uye kudzivirira matambudziko akakomba, anotyisidzira hupenyu.

Ko Alagille Syndrome inogona kudzivirirwa here?

Sezvo ichi chiri chirwere chinokonzerwa nekuchinja kwemajini, hapana nzira yekudzivirira . Kana mumwe munhu mumhuri yako aine Alagille Syndrome, kana kuti uri kutarisira mwana uye uchida kuziva njodzi yako yekupa chirwere ichi kumwana wako, taura nachiremba wako nezvekuongororwa kwemajini.

Munhu ane Alagille Syndrome angatarisira remangwana rerudzii?

Hapana mushonga chaiwo weAlagille Syndrome, sezvo iri chirwere chehupenyu hwese . Kurapa kwakagadzirirwa kudzora zviratidzo, kupa nyaradzo, uye kudzivirira matambudziko anotyisidzira hupenyu.

Zvakakosha kuziva chirwere ichi pakutanga uye kutanga kurapwa. Izvi zvinogona kuderedza migumisiro yacho.

Vanhu vane chirwere chakakomba chechiropa nechirwere chemwoyo vanogona kurarama kwenguva pfupi. Zvisinei, pari zvino kune nzira dzakawanda dzekurapa dzinogona kubatsira kugadzirisa dambudziko iri.

Vanhu vane Alagille Syndrome vanofanira kuona vanachiremba vavo nguva nenguva kuti vaongororwe nguva nenguva . Izvi zvinogona kubatsira kuona kana chirwere ichi chiri kukonzera zviratidzo zvinouraya uye kuti kurapwa kwacho kunoshanda sei. Kuongororwa nguva dzose kunogona kusanganisira:

• Kuongororwa kwemoyo ne ultrasound (echocardiogram).
• Kuongororwa kwedumbu neultrasound (chiropa neitsvo).
• Kuongororwa kwemaziso kwegore negore.
• Kuongororwa kweMRI kwetsinga dzeropa dzeuropi.

Munhu ane Alagille Syndrome anotarisirwa kurarama kwenguva yakareba sei?

Vanhu vazhinji vane zviratidzo zvishoma zveAlagille Syndrome vanogona kurarama hupenyu hwakafanana . Zvisinei, avo vane zviratidzo zvakakomba vanogona kunge vaine nguva shoma yekurarama.

Taura nachiremba wako nezvezviratidzo zvako. Anowanzo kuraira bvunzo dzekuongorora mashandiro enhengo dzako dzemukati. Chinangwa chikuru chekurapa ndechekudzivirira zviratidzo zvinogona kutyisidzira hupenyu.

Ndinofanira kuona chiremba wangu rini?

Kana wakaonekwa uine Alagille Syndrome uye ukaona zviratidzo izvi zvekukuvadzwa kwechiropa, enda kuna chiremba nekukasika:

• Kana ganda rako kana maziso ako akaita yero.
• Kana ganda richikwenya zvakanyanya pasina chikonzero chaicho.
• Kana mafuta akaunganidzwa (mapundu erudzi rweyero) achionekwa pamusoro peganda.
• Kana weti yako yakasviba kupfuura zvakajairika.

Kana uine zviratidzo zveAlagille Syndrome zviri kukuomera kuita mabasa ako ezuva nezuva, enda kuna chiremba wako nekukasika. Zvakakoshawo kuzivisa chiremba wako kana mwana wako ane Alagille Syndrome akaratidza matanho ekukura achiri mudiki kana achiri mudiki.

Ndinofanira kuenda kuDhipatimendi reEmergency (ETU) riini?

Alagille Syndrome inogona kukonzera zviratidzo zvemoyo zvinotyisidzira hupenyu . Kana uine chimwe chezviratidzo izvi, enda kuchipatara nekukurumidza:

• Kana kurova kwemoyo wako kusina kurongeka.
• Kana uchinetseka kufema.
• Kana ganda rako, miromo, kana nzara zvichiita sebhuruu.

Dzimwe nyaya dzeAlagille Syndrome dzine njodzi yakakura yekubatwa nestroke. Kana ukaona chimwe chezviratidzo izvi zvestroke, fonera 911 nekukasika (kana kuenda kuchipatara chiri pedyo newe):

• Kana uchinzwa kusanzwa zvakanaka kune rumwe rutivi rwemuviri wako.
• Kana uchinetseka kutaura, kana kuti mashoko ako akamira.
• Kana paine shanduko yekuona kamwe kamwe.
• Dzungu, kurasikirwa nekuenzana, matambudziko ekushanda pamwe chete.
• Musoro unotyisa.

Mibvunzo ipi yandinofanira kubvunza chiremba wangu?

Kana ukaona chiremba wako, unogona kubvunza mibvunzo yakaita seiyi:

• Zviratidzo zvangu zvakakomba sei?
• Ndichada kuvhiyiwa here?
• Ndinofanira kudzoka rini kuti ndione kuti kurapwa kwacho kwabudirira sei?
• Ndezvipi migumisiro yemishonga yawakanyorera?

Yeuka, Alagille Syndrome inobata vanhu vakasiyana zvakasiyana. Vamwe vanhu vanogona kunge vaine zviratidzo zvishoma, nepo vamwe vangave nezviratidzo zvakakomba zvinoda kurapwa kwakawanda kana kuvhiyiwa. Saka shanda pamwe chete nachiremba wako kuti uwane rubatsiro rwaunoda. Zvakakosha kuti urambe uchiongorora kuti ugadzirise migumisiro yechirwere uye zviratidzo zvinogona kutyisidzira hupenyu.

Mharidzo Yekuenda Nayo Kumba

Alagille Syndrome chirwere chinokonzerwa nemajini. Chinonyanya kukanganisa chiropa nemoyo. Zviratidzo zvinogona kusiyana kubva pamunhu kusvika pamunhu. Kunyangwe pasina mushonga, kune marapirwo anogona kubatsira kudzora zviratidzo uye kudzivirira matambudziko anotyisidzira hupenyu. Kuongororwa nekukurumidza uye kurapwa kwakakosha, uye unofanira kutevedzera zano rachiremba wako. Kana iwe kana mwana wako muine chimwe chezviratidzo izvi, musatya kuona chiremba uye kuwana rubatsiro. Yeukai, hamusi mega, uye kune vanachiremba nevadikanwi vanogona kukubatsirai parwendo urwu.

` Alagille Syndrome, Zvirwere zveMajini, Zvirwere zveChiropa, Zvirwere zveMwoyo, Zvirwere zveVana, Jaundice